Wong Lee-Jun C. (ed.) Next Generation Sequencing Based Clinical Molecular Diagnosis of Human Genetic Disorders

Springer, 2017. — 365 p. — ISBN 978-3-319-56416-6.Next Generation Sequencing technology has been applied to clinical diagnoses in the past three to five years using various approaches, including target gene panels and whole exomes. The purpose of this book is to summarize the experiences, the results, advantages and disadvantages, along with future development in the area of NGS-based molecular diagnosis. This up-to-date volume will not only provide the readers working with Next Generation Sequencing the basics on how to apply the technology to molecular diagnosis, but will present the results and experience of practical application.Overview of the Clinical Utility of Next Generation Sequencing in Molecular Diagnoses of Human Genetic Disorders
Detection of Copy Number Variations (CNVs) Based on the Coverage Depth from the Next Generation Sequencing Data
Next Generation Sequencing (NGS) Based Panel Analysis of Metabolic Pathways
The Next Generation Sequencing Based Molecular Diagnosis of Visual Diseases
Application of Next-Generation Sequencing to Hearing Loss
Next-Generation Sequencing Based Clinical Molecular Diagnosis of Primary Immunodeficiency Diseases
Next-Generation Sequencing Based Testing for Disorders of the Skeleton
Diagnosing Hereditary Cancer Susceptibility Through Multigene Panel Testing
Application of Next-Generation Sequencing in Noonan Spectrum Disorders
The Applications and Challenges of Next-Generation Sequencing in Diagnosing Neuromuscular Disorders
Next-Generation Sequencing for the Diagnosis of Monogenic Disorders of Insulin Secretion
Application of NGS in the Diagnosis of Cardiovascular Genetic Diseases
Comprehensive Analyses of the Mitochondrial Genome
Exome Sequencing in the Clinical Setting
Family-Based Next-Generation Sequencing Analysis
Next Generation of Carrier Screening